Möller C G, Kimberling W J, Davenport S L, Priluck I, White V, Biscone-Halterman K, Odkvist L M, Brookhouser P E, Lund G, Grissom T J
Boys Town National Institute for Communication Disorders in Children, Omaha, Neb.
Laryngoscope. 1989 Jan;99(1):73-9. doi: 10.1288/00005537-198901000-00014.
Usher syndrome is an autosomal recessive disorder characterized by severe hearing loss or deafness and retinitis pigmentosa. Eleven families with 25 affected members were studied. The test battery included genetic studies, clinical examination, audiological, ophthalmologic, and otoneurological tests, and magnetic resonance imaging. Sixteen affected persons had profound hearing loss or were considered anacusic, with absent bilateral vestibular responses. These patients had varying degrees of retinitis pigmentosa. These 16 patients were considered to have type I Usher syndrome. Nine persons were diagnosed as Usher type II with a moderate to profound hearing loss, normal vestibular function, and retinitis pigmentosa of varying degree. Magnetic resonance imaging was normal in all cases. Otoneurological tests indicated no central nervous system disturbances. The conclusion is that hearing loss and balance problems in Usher syndrome are due to inner ear damage with no evidence of central nervous system disturbances. Furthermore, the ataxia seen in Usher type I is due to a combination of retinitis pigmentosa and bilateral peripheral vestibular deficiency.
尤塞氏综合征是一种常染色体隐性疾病，其特征为严重听力丧失或失聪以及色素性视网膜炎。对11个家庭的25名患者进行了研究。测试项目包括基因研究、临床检查、听力学、眼科和耳神经学检查以及磁共振成像。16名患者有严重听力丧失或被视为全聋，双侧前庭反应缺失。这些患者有不同程度的色素性视网膜炎。这16名患者被认为患有I型尤塞氏综合征。9人被诊断为II型尤塞氏综合征，有中度至严重听力丧失、正常前庭功能以及不同程度的色素性视网膜炎。所有病例的磁共振成像均正常。耳神经学检查表明无中枢神经系统紊乱。结论是，尤塞氏综合征中的听力丧失和平衡问题是由于内耳损伤，没有中枢神经系统紊乱的证据。此外，I型尤塞氏综合征中出现的共济失调是色素性视网膜炎和双侧外周前庭功能缺陷共同作用的结果。
